Patient involvement in research is about adding value rather than commenting on technical quality. After 15 years as an involved patient in cancer research I started looking around and I found I was asking myself, where is the next leap in real patient benefit going to come from?Science is making a difference to a few patients with metastatic disease but it has been achieved at a high cost. I looked at the evidence from current practices in cancer care and saw that many patients are still dying within days of taking their last chemotherapy. The ethics of current drug adoption practices and the use of new drugs are being questioned socially and politically. Evidence based practice is asking researchers to find the true value of new treatments. I came to the conclusion that quality of life assessment and patient reported outcome measures (PROMs) which capture subjective patient experience are where real and lasting progress can be made.Quality of life in research is about structured assessment. PROMs are built around the patient experience. Patient involvement is essential. The idea that you can have Patient Reported Outcomes without patient provided inputs to inform the methods and processes used, is irrational and probably unethical. In research there is a lot of scattered activity but no coherent vision for all this work. I propose a vision based on defining patient pathways informed by PROMs. Pathways would underpin a life quality description which patients can easily identify and which doctors would find easy to communicate. Pathways would also offer value to regulators and commissioners by focusing on how clinicalactivity delivers patient benefit.

Desmoid-type fibromatosis (DF) is a rare and locally aggressive monoclonal, fibroblastic proliferation characterized by a variable and often unpredictable clinical course. Currently, there is no established or evidence-based treatment approach available for this disease. Therefore, in 2015 the European Desmoid Working Group published a position paper giving recommendations on the treatment of this intriguing disease. Here, we present an update of this consensus approach based on professionals’ AND patients’ expertise following a round table meeting bringing together sarcoma experts from the European Organisation for Research and Treatment of Cancer (EORTC) Soft Tissue and Bone Sarcoma Group (STBSG) with patients and patient advocates from Sarcoma Patients EuroNet (SPAEN). In this paper, we focus on new findings regarding the prognostic value of mutational analysis in DF patients and new systemic treatment options.

Advances in understanding the biology of rare cancers and in genomic technologies are reshaping drug development and are fostering patients’ hopes because an increasing number of drugs are expected to be made available. However, timely patient access to innovative drugs in rare cancers continues to encounter methodological and regulatory hurdles in an environment more and more characterised by limited resources and health systems under pressure. Decisions on drug pricing and reimbursement often delay access to authorised drugs at national or even regional level. Regulatory and economic issues raise ethical problems. Rare cancer patients have a right to the same quality treatments as all other patients: the higher degree of uncertainty, due to the so-called “intrinsic lack of or defect in evidence” of these diseases, should be addressed by all the different stakeholders to prevent it from being the cause of discrimination against these patients. This challenging goal may be achieved by the adoption of the new ongoing paradigm able to take into consideration both the interdependence of all parties involved, their different drivers and their capability of risk-sharing, starting from the real “core driver,” which can be summarised in the words of a patient: “When you are faced with a rare cancer, you really can’t wait.”

In these last few years, many efforts have been made by both the scientific and patient communities in the field of rare cancers in order to allow patients access to promising new experimental drugs and to limit discrimination against them. There is a greater sense of urgency about developing and bringing treatments to patients as soon as possible. Rare cancers pose additional, particular challenges if compared with the more common tumours, due essentially to the small numbers of patients involved. Meanwhile, the current regulatory constraints require that the benefit of new drugs be proven in a large number of patients, which is unfortunately impossible, considering the scarcity of numbers.The consequence is therefore an elevated risk of failing to gather enough evidence to obtain the approval for a new drug and, to compound the problem, the development of the drugs themselves is discouraged by the exorbitant costs to the industry of running small trials. How can this scarcity of numbers be overcome in order to allow patients earlier access to the new therapies? There are, essentially, two ways: one involves working on the methodology with which clinical trials are conducted, reducing the stringent limitations connected with numbers. The second way is to organize large-sized clinical trials. In both of these methodologies, patient informationis crucial.

Desmoid-type fibromatosis (DF) is a rare monoclonal, fibroblastic proliferation characterised by a variable and often unpredictable clinical course. It may affect nearly all parts of the body including extremities, trunk and abdomen. Considering the variable clinical presentations, anatomic locations and biological behaviours, an individualised treatment approach is required. No established or evidence-based approach for the treatment of this neoplasm is available as of today. Therefore, we propose a consensus treatment algorithm based on a round table meeting bringing together sarcoma experts from the European Organisation for Research and Treatment of Cancer (EORTC) Soft Tissue and Bone Sarcoma Group (STBSG) with patient advocates from Sarcoma Patients EuroNet (SPAEN). The aim of the meeting was to develop - for the first time ever - a consensus approach based on professionals' AND patients' expertise. As a fundamental prerequisite, all patients should be discussed in a multidisciplinary setting in centres or professional networks with a specific expertise in the disease.

While they account for one-fifth of new cancer cases, rare cancers are difficult to study. A higher than average degree of uncertainty should be accommodated for clinical as well as for population-based decision making. Rules of rational decision making in conditions of uncertainty should be rigorously followed and would need widely informative clinical trials. In principle, any piece of new evidence would need to be exploited in rare cancers. Methodologies to explicitly weigh and combine all the available evidence should be refined, and the Bayesian logic can be instrumental to this end. Likewise, Bayesian-design trials may help optimize the low number of patients liable to be enrolled in clinical studies on rare cancers, as well as adaptive trials in general, with their inherent potential of flexibility when properly applied. While clinical studies are the mainstay to test hypotheses, the potential of electronic patient records should be exploited to generate new hypotheses, to create external controls for future studies (when internal controls are unpractical), to study effectiveness of new treatments in real conditions. Framework study protocols in specific rare cancers to sequentially test sets of new agents, as from the early post-phase I development stage, should be encouraged. Also the compassionate and the off-label settings should be exploited to generate new evidence, and flexible regulatory innovations such as adaptive licensing could convey new agents early to rare cancer patients, while generating evidence. Though validation of surrogate end points is problematic in rare cancers, the use of an updated notion of tumor response may be of great value in the single patient to optimize the use of therapies, all the more the new ones. Disease-based communities, involving clinicians and patients, should be regularly consulted by regulatory bodies when setting their policies on drug approval and reimbursement in specific rare cancers.